Combination of polymorphisms in luteinizing hormone β, estrogen receptor β and progesterone receptor and susceptibility to infertility and endometriosis

Denise Maria Christofolini, Vilarino F.L, Fabia Lima Vilariño, Fábia Lima Vilarino, Fernanda Mafra, Fernanda Abani Mafra, Mafra FA, Gustavo Mendonça André, André GM, Bianca Bianco, Caio Parente Barbosa
European journal of obstetrics, gynecology, and reproductive biology · 2011 · vol. 158(2) , pp. 260–264 · doi:10.1016/j.ejogrb.2011.06.028 · PMID:21764500 · W2106026579
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This study investigated how specific genetic variations in luteinizing hormone beta, estrogen receptor beta, and progesterone receptor influence the risk of infertility and endometriosis.

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Abstract

OBJECTIVES: To determine whether the combination of PR (PROGINS), ERβ G+1730A and/or LHβ G1502A polymorphisms in infertile women with and without endometriosis and in a control group increases the risk of infertility and/or endometriosis. STUDY DESIGN: Case-control study including 201 infertile women with endometriosis, 80 infertile women without endometriosis and 206 fertile women as control group. PROGINS was identified by PCR (polymerase chain reaction) and ERβ G+1730A and LHβ G1502A were identified by PCR-RFLP (restriction fragment length polymorphism). RESULTS: A statistically significant difference was found for the combination of LHβ+ERβ polymorphisms among infertile patients with endometriosis and control group (p=0.003, OR=2.468), among infertile patients with endometriosis I/II and control group (p=0.002, OR=3.081), among infertile patients with endometriosis III/IV and control group (p=0.035, OR=2.136) and for the combination of LHβ+PROGINS polymorphisms among infertile patients with endometriosis I/II and control group (p=0.014, OR=3.081). However, the odds of developing endometriosis are not enhanced in the presence of the two polymorphisms, being similar to the odds when only LH polymorphism is present. CONCLUSIONS: Individually, the presence of LHβ G1502A and ERβ G+1730A polymorphisms is associated with infertility and endometriosis associated infertility. However, when two polymorphisms are present in the same individual it does not appear to increase the chance of developing endometriosis or infertility.

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Condition tags

endometriosisinfertility

MeSH descriptors

Endometriosis Estrogen Receptor beta Infertility, Female Luteinizing Hormone, beta Subunit Receptors, Progesterone Adult Adult Case-Control Studies Case-Control Studies Endometriosis Endometriosis Estrogen Receptor beta Estrogen Receptor beta Female Female Genetic Predisposition to Disease Genetic Predisposition to Disease Humans Humans Infertility, Female

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